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NM_000238.4(KCNH2):c.2414T>G (p.Phe805Cys) AND Congenital long QT syndrome

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000058119.10

Allele description [Variation Report for NM_000238.4(KCNH2):c.2414T>G (p.Phe805Cys)]

NM_000238.4(KCNH2):c.2414T>G (p.Phe805Cys)

Gene:
KCNH2:potassium voltage-gated channel subfamily H member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q36.1
Genomic location:
Preferred name:
NM_000238.4(KCNH2):c.2414T>G (p.Phe805Cys)
Other names:
p.F805C:TTT>TGT
HGVS:
  • NC_000007.14:g.150949034A>C
  • NG_008916.1:g.33893T>G
  • NG_112814.1:g.250A>C
  • NM_000238.4:c.2414T>GMANE SELECT
  • NM_001406753.1:c.2126T>G
  • NM_172057.3:c.1394T>G
  • NP_000229.1:p.Phe805Cys
  • NP_000229.1:p.Phe805Cys
  • NP_001393682.1:p.Phe709Cys
  • NP_742054.1:p.Phe465Cys
  • NP_742054.1:p.Phe465Cys
  • LRG_288t1:c.2414T>G
  • LRG_288t3:c.1394T>G
  • LRG_288:g.33893T>G
  • LRG_288p1:p.Phe805Cys
  • LRG_288p3:p.Phe465Cys
  • NC_000007.13:g.150646122A>C
  • NM_000238.2:c.2414T>G
  • NM_000238.3:c.2414T>G
  • NM_172056.1:c.*865T>G
  • NM_172057.2:c.1394T>G
  • NR_176254.1:n.2822T>G
  • NR_176255.1:n.1695T>G
  • Q12809:p.Phe805Cys
Protein change:
F465C
Links:
UniProtKB: Q12809#VAR_014384; dbSNP: rs199472999
NCBI 1000 Genomes Browser:
rs199472999
Molecular consequence:
  • NM_000238.4:c.2414T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406753.1:c.2126T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172057.3:c.1394T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_176254.1:n.2822T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176255.1:n.1695T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Congenital long QT syndrome (RWS)
Synonyms:
Familial long QT syndrome; Romano-Ward syndrome; Ventricular fibrillation with prolonged QT interval
Identifiers:
MONDO: MONDO:0019171; MedGen: C1141890; Orphanet: 768; OMIM: PS192500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000089639Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust
no classification provided
not providedgermlineliterature only

PubMed (7)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

Splawski I, Shen J, Timothy KW, Lehmann MH, Priori S, Robinson JL, Moss AJ, Schwartz PJ, Towbin JA, Vincent GM, Keating MT.

Circulation. 2000 Sep 5;102(10):1178-85.

PubMed [citation]
PMID:
10973849

Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel.

Moss AJ, Zareba W, Kaufman ES, Gartman E, Peterson DR, Benhorin J, Towbin JA, Keating MT, Priori SG, Schwartz PJ, Vincent GM, Robinson JL, Andrews ML, Feng C, Hall WJ, Medina A, Zhang L, Wang Z.

Circulation. 2002 Feb 19;105(7):794-9.

PubMed [citation]
PMID:
11854117
See all PubMed Citations (7)

Details of each submission

From Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust, SCV000089639.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (7)

Description

This variant has been reported as associated with Long QT syndrome in the following publications (PMID:10973849;PMID:11854117;PMID:15840476;PMID:16432067;PMID:18468596;PMID:11741928). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024